ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826216695
Gene: LDLR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000237982
ClinVar Variation:
251812
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182732.1:p.Thr327Asn
CA10585425
NM_001195803.2:c.980C>A